Canonical Allele Identifier: CA361724663

Gene: CSF1R

Linked Data

• MyVariant Identifiers: chr5:g.149452955G>T (hg19) ; chr5:g.150073392G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150073392G>T , CM000667.2:g.150073392G>T	GRCh38
NC_000005.9:g.149452955G>T , CM000667.1:g.149452955G>T	GRCh37
NC_000005.8:g.149433148G>T	NCBI36
NG_012303.1:g.44981C>A
NG_012303.2:g.44981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675795.1:c.991C>A MANE Select	ENSP00000501699.1:p.Leu331Met
ENST00000286301.7:c.991C>A	ENSP00000286301.3:p.Leu331Met
ENST00000504875.5:c.991C>A	ENSP00000422212.1:p.Leu331Met
ENST00000543093.1:c.890-2821C>A	ENSP00000445282.1:n.890-2821C>A
NM_001288705.1:c.991C>A	NP_001275634.1:p.Leu331Met
NM_005211.3:c.991C>A	NP_005202.2:p.Leu331Met
NR_109969.1:n.1204C>A
NM_001288705.2:c.991C>A	NP_001275634.1:p.Leu331Met
NM_001349736.1:c.991C>A	NP_001336665.1:p.Leu331Met
NM_001288705.3:c.991C>A MANE Select	NP_001275634.1:p.Leu331Met
NM_001375320.1:c.991C>A	NP_001362249.1:p.Leu331Met
NM_001375321.1:c.547C>A	NP_001362250.1:p.Leu183Met
NR_164679.1:n.1047C>A
NM_001349736.2:c.991C>A	NP_001336665.1:p.Leu331Met
NM_005211.4:c.991C>A	NP_005202.2:p.Leu331Met
NR_109969.2:n.1118C>A